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Mal de Meleda without mutations in the ARS coding sequence |
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European Journal of Dermatology. Volume 12, Number 2, 129-32, March - April 2002, Gènes et peau |
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 Free Article
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Author(s) : Maurice A.M. van STEENSEL, Michel van GEEL, Peter M. STEIJLEN |
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Summary : Mal de Meleda (Mal de Mljet) is a recessive palmoplantar hyperkeratosis associated with hyperhidrosis, brachydactyly and sometimes pseudo-ainhum. It was recently discovered to be caused by mutations in the ARS gene on chromosome 8. Here we report a patient suffering from Mal de Meleda not associated with ARS mutations. The related E48 and GML genes were also excluded. |
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Keywords : Mal de Meleda, hyperkeratosis, ARS/LURP-1 gene, genetic heterogeneity. |
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